Canonical Allele Identifier: CA375506661

Gene: KCNT1

Linked Data

• MyVariant Identifiers: chr9:g.138662239T>A (hg19) ; chr9:g.135770393T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.135770393T>A , CM000671.2:g.135770393T>A	GRCh38
NC_000009.11:g.138662239T>A , CM000671.1:g.138662239T>A	GRCh37
NC_000009.10:g.137802060T>A	NCBI36
NG_033070.1:g.73209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371757.7:c.1715T>A MANE Select	ENSP00000360822.2:p.Phe572Tyr
ENST00000674572.1:c.1556T>A	ENSP00000501742.1:p.Phe519Tyr
ENST00000675090.1:c.1463T>A	ENSP00000501833.1:p.Phe488Tyr
ENST00000675399.1:c.1463T>A	ENSP00000501932.1:p.Phe488Tyr
ENST00000676421.1:c.1472T>A	ENSP00000502322.1:p.Phe491Tyr
ENST00000263604.5:c.1616T>A	ENSP00000263604.4:p.Phe539Tyr
ENST00000371757.6:c.1715T>A	ENSP00000360822.2:p.Phe572Tyr
ENST00000460750.5:c.*1325T>A	ENSP00000418777.1:n.*1325T>A
ENST00000486577.6:c.1598T>A	ENSP00000417578.3:p.Phe533Tyr
ENST00000487664.5:c.1715T>A	ENSP00000417851.2:p.Phe572Tyr
ENST00000488444.6:c.1658T>A	ENSP00000419007.3:p.Phe553Tyr
ENST00000490355.6:c.1658T>A	ENSP00000418003.3:p.Phe553Tyr
ENST00000490363.3:n.1534T>A
ENST00000491806.6:c.1658T>A	ENSP00000419086.3:p.Phe553Tyr
ENST00000628528.2:c.1580T>A	ENSP00000486374.1:p.Phe527Tyr
ENST00000630792.2:c.1556T>A	ENSP00000486486.1:p.Phe519Tyr
ENST00000631073.2:c.1658T>A	ENSP00000486130.1:p.Phe553Tyr
NM_001272003.1:c.1580T>A	NP_001258932.1:p.Phe527Tyr
NM_020822.2:c.1715T>A	NP_065873.2:p.Phe572Tyr
XM_011518877.1:c.1850T>A	XP_011517179.1:p.Phe617Tyr
XM_011518878.1:c.1859T>A	XP_011517180.1:p.Phe620Tyr
XM_011518879.1:c.1850T>A	XP_011517181.1:p.Phe617Tyr
XM_011518880.1:c.1616T>A	XP_011517182.1:p.Phe539Tyr
XM_011518881.1:c.1205T>A	XP_011517183.1:p.Phe402Tyr
XM_011518877.3:c.1850T>A	XP_011517179.1:p.Phe617Tyr
XM_011518878.3:c.1859T>A	XP_011517180.1:p.Phe620Tyr
XM_011518879.3:c.1850T>A	XP_011517181.1:p.Phe617Tyr
XM_011518881.3:c.1205T>A	XP_011517183.1:p.Phe402Tyr
XM_017014931.1:c.1649T>A	XP_016870420.1:p.Phe550Tyr
XM_017014932.1:c.1472T>A	XP_016870421.1:p.Phe491Tyr
XM_017014933.1:c.1205T>A	XP_016870422.1:p.Phe402Tyr
XM_024447617.1:c.1205T>A	XP_024303385.1:p.Phe402Tyr
XM_024447618.1:c.1205T>A	XP_024303386.1:p.Phe402Tyr
NM_020822.3:c.1715T>A MANE Select	NP_065873.2:p.Phe572Tyr
NM_001272003.2:c.1580T>A	NP_001258932.1:p.Phe527Tyr